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β-Ketothiolase (2-methylacetoacetyl-coenzyme a thiolase) deficiency: identification of two patients in israel

✍ Scribed by K. M. Gibson; O. N. Elpeleg; M. J. Bennett


Book ID
105312817
Publisher
Springer
Year
1996
Tongue
English
Weight
170 KB
Volume
19
Category
Article
ISSN
0141-8955

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Molecular basis of β-ketothiolase defici
✍ Toshiyuki Fukao; Seiji Yamaguchi; Tadao Orii; Takashi Hashimoto 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 669 KB

Communicated by R. G. H. Cotton P-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T 2 gene. N o large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations w